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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Progressive myoclonic epilepsy


Other Names for this Disease
  • Familial progressive myoclonic epilepsy
  • PME
  • Progressive myoclonus epilepsy
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Overview

Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy.[1] Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence.[2]
Last updated: 5/19/2011

References

  1. Progressive myoclonic epilepsy. National Organizations for Rare Disorders (NORD). 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/781/viewAbstract. Accessed 5/19/2011.
  2. Myoclonus Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). November 2010; http://www.ninds.nih.gov/disorders/myoclonus/detail_myoclonus.htm. Accessed 5/19/2011.
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Basic Information

In Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Progressive myoclonic epilepsy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Familial progressive myoclonic epilepsy
  • PME
  • Progressive myoclonus epilepsy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.